Neuroendocrine carcinoma in a patient with Birt-Hogg-Dube syndrome

Tijs Claessens, Sherry A. Weppler, Michel van Geel, David Creytens, Maaike Vreeburg, Bradley Wouters, Maurice A. M. van Steensel*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Background. A patient with Birt-Hogg-Dube syndrome (BHD) presented with gross hematuria of 6 months' duration. Imaging revealed the presence of a mass in the left prostatic lobe, in addition to a previously observed renal mass. Prostate biopsy and imaging findings indicated an inflammatory etiology, and the patient was discharged. 5 months later, the patient presented once again with urinary retention. During transurethral resection of the prostate, a mass adjacent to the bladder was observed. Postoperative imaging revealed a large pelvic mass, a second mass impinging on the rectum, and extensive lymphadenopathy. The patient died 2 weeks later. Investigations. CT and MRI, physical examination, measurement of serum markers, urinalysis, transrectal prostate biopsy, histopathological and genetic examination of tumor specimens, postmortem immunohistochemical analysis. Diagnosis. Neuroendocrine carcinoma of prostate or bladder origin. Management. The patient died before planned chemotherapy or radiation therapy could be implemented. More-frequent monitoring of the patient might have led to earlier diagnosis and allowed treatment to be started before widespread tumor metastasis and invasion.
Original languageEnglish
Pages (from-to)583-587
JournalNature Reviews Urology
Issue number10
Publication statusPublished - Oct 2010


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